Porphyria

Medically Reviewed by Shruthi N, MD on October 03, 2024
Written by Matt McMillen, Lori M. King, PhD
13 min read

Porphyria is a group of inherited disorders caused by an abnormality in one of the steps your body uses to make heme. Heme is the protein in your red blood cells that makes them red and carries oxygen from your lungs to the other tissues in your body. Because your process for heme production has slowed or stopped, you get a buildup of intermediate chemicals called porphyrins or porphyrin precursors. Buildup of these chemicals in your tissues can cause nerve or skin problems.

One of the ways experts classify porphyria is based on the main symptoms. Acute porphyria causes mostly pain, nausea, and vomiting. There are four variants of acute porphyria. Cutaneous porphyria mostly causes sun sensitivity, with blistering, swelling, and pain on sun exposure. There are five variants of cutaneous porphyria.

It's rare; only about 200,000 people in the U.S. have one of the eight variants of porphyria. There's currently no cure for porphyria, but treatment can help you manage your symptoms.

Read on to learn more about the causes, triggers, symptoms, and available treatments for porphyria.

Doctors classify porphyria in a couple of ways. One way depends on your main symptoms. If your main symptoms are in your nervous system, you likely have acute porphyria. If your main symptoms are in your skin, you likely have cutaneous porphyria. Another way to classify it depends on whether most of the extra precursor chemicals are made in your liver (hepatic porphyria) or your bone marrow (erythropoietic porphyria).

Acute porphyria

The most common symptom of acute porphyria is periodic attacks of severe pain, usually in your chest and belly, along with nausea, vomiting, and constipation. But you may also have heart palpitations, muscle weakness, seizures, and hallucinations. Your symptoms tend to develop over hours or days and may last days or weeks.

There are four variants of acute porphyria:

Acute intermittent porphyria (AIP). This variant is the most common type of acute porphyria. Its most common symptom is belly pain, but you may also have:

  • Pain in your arms and legs
  • Generalized muscle weakness, which can progress until the muscles that help you breath are paralyzed
  • Vomiting
  • Constipation
  • Fast heart rate (tachycardia)
  • Varying blood pressure
  • Urinary retention (when you can't fully empty your bladder)
  • Mental confusion
  • Psychosis
  • Hallucinations
  • Seizures

With this variant, your pee may be purple-red because you're eliminating some of the porphyrin precursors in your pee. Your blood levels of the porphyrin precursors porphobilinogen and aminolevulinic acid (ALA) will be high during a flare-up, although they may be high all the time.

Variegate porphyria (VP). With this variant, you may have nervous system symptoms similar to those of AIP. But you will likely also have skin symptoms, such as blisters and sores on your skin after exposure to sunlight. Skin symptoms may not start until you're in your 20s or 30s. These blisters and sores tend to heal very slowly, and you may be left with discoloration and pits in your skin afterward.

Hereditary coproporphyria (HCP). With this variant, you have high levels of the porphyrin precursor coproporphyria, which will make your skin sensitive to sunlight. Although your skin symptoms may be mild, your other symptoms will be similar to those of AIP.

Delta-ALA dehydratase-deficiency porphyria (ADP). This is an extremely rare variant; only about nine cases in the world have ever been reported. The most common symptom of this type is severe belly pain. People with this variant may also have nausea, vomiting, fast heart rate, raised blood pressure, mental confusion, and seizures. However, you may also have skin symptoms, such as burning, blistering, and scarring in areas that are exposed to the sun.

Cutaneous porphyria

The most common symptoms of cutaneous porphyria include blistering or pain in your skin after sun exposure. You will usually have symptoms on the parts of your skin that are most exposed to the sun, such as the backs of your hands, forearms, face, ears, and neck.

There are five types of cutaneous porphyrias:

Porphyria cutanea tarda (PCT). This is the most common variant of porphyria, whether acute or cutaneous. With this variant, most of your symptoms will be in your skin, such as blistering of your skin where it's exposed to light, scrapes, blisters, and sores. You may also have scarring, disfiguration, and areas of more or less pigmentation in your skin. You may also notice more hair growth, especially on your face.

Hepatoerythropoietic porphyria (HEP). Some experts consider this another form of PCT. It's an extremely rare variant. Symptoms will usually start in infancy or childhood, although some people may not have them until adulthood. Your symptoms may include painful blisters on sun-exposed skin, as well as scarring and discoloration where you got blisters. You may have have excessive hair growth on your skin, as well. And you may have swelling in your liver or spleen and anemia.

Erythropoietic protoporphyria (EPP). This is the most most common variant of cutaneous porphyria.Symptoms usually start in childhood and include mild to severe light sensitivity, with burning on exposure to the sunlight. Your symptoms may be more severe in the summer. Often, the symptoms only last about 12-24 hours and heal without leaving scars or discoloration of your skin. But some people have chronic skin sores that last weeks and may leave a scar. Some people with this variant also have liver damage, which may cause swelling in their gallbladder and bile duct.

X-linked protoporphyria (XLP). Some experts think of this as another form of EPP. It causes extreme sun sensitivity that leads to severe pain, burning, and itching of skin that is exposed to the sun. People usually don't get blistering or serious scarring, though. Because this is an X-linked condition, people who are assigned male at birth with this condition have more severe symptoms than those who are assigned female at birth (AFAB). AFAB people may not have any symptoms at all. Symptoms tend to start immediately or shortly after exposure to sunlight, even indirect light that has passed through window glass or is reflected off water or sand. Some people with serious symptoms may develop liver disease.

Congenital erythropoietic porphyria (CEP). This is another extremely rare variant. Symptoms usually start in childhood and include sunlight sensitivity with blistering and scarring and increased hair growth. Some people have dark pee and brown teeth that glow in the dark. Some people may lose their fingers and toes and cartilage from their ears and nose.

No matter what variant of porphyria you have, it has the same root cause: A problem with how your body makes a substance called heme. Heme is a vital part of a protein called hemoglobin in your red blood cells. You need the heme in hemoglobin to carry oxygen from your lungs to the rest of your body.

Your body makes about 85% of the heme you need in your bone marrow. The rest is made mostly by your liver. You have eight enzymes (special proteins that help make chemical reactions happen) that make heme in a stepwise process, sort of like an assembly line. This means that the product from each step in the process goes forward into the next step, until finally, heme is produced as the final product.

If one of the steps in this stepwise process is defective, heme production can't move forward. So the product from the step before the defective enzyme will buildup in your tissues. These products are called porphyrins or porphyrin precursors. And the buildup of these porphyrin and porphyrin precursors causes your symptoms.

With exception of PCT, each variant of porphyria is caused by a mutation in the gene that codes for one of these enzymes. PCT can be caused by a gene mutation in one of the enzymes used to make heme, but it's also often caused by things in your lifestyle or things you encounter in your environment.

For each variant of porphyria, the defective enzyme in the process is as follows:

  • AIP: Porphobilinogen deaminase (or hydroxymethylbilane synthase)
  • VP: Protoporphyrinogen oxidase
  • HCP: Coproporphyrinogen oxidase
  • ADP: Delta-ALA dehydratase
  • PCT and HEP: Uroporphyrinogen decarboxylase
  • EPP: Ferrochelatase
  • CEP: Uroporphyrinogen III cosynthase
  • XLP: Erythroid-specific delta-aminolevulinic synthase-2

Porphyria is typically triggered by:

  • Certain medicines, such as hormonal b irth control, sulfa antibiotics, barbiturates, anesthetics, and seizure medicines
  • Cyclic progesterone hormone activity in AFAB people
  • Drinking alcohol, especially binge drinking (consuming more than four to five drinks in a 2-hour period) or heavy drinking (consuming more than 7-14 drinks in a week)
  • Smoking
  • Exposure to sunlight
  • Low intake of carbohydrates, perhaps due to fasting, dieting, illness, or weight loss surgery
  • Getting an infection or another illness
  • Emotional or physical stress

PCT can also be triggered by:

  • Another genetic condition called hemochromatosis that causes iron to build up in your body
  • Infection with a virus, such as hepatitis C and HIV

One of the ways experts use to classify porphyria is by the main symptoms each variant causes. Acute porphyria mainly causes nervous system symptoms, and cutaneous porphyria mainly causes skin symptoms.

Symptoms of acute porphyria

When you have symptoms of acute porphyria, your doctor may call this an acute porphyria attack. Attacks can vary in severity from mild to severe. And they may last days or weeks. It's important to get treatment for your symptoms during an attack because the symptoms can become life-threatening. Fortunately, most people only have a few attacks throughout their lives.

These symptoms may include:

People with VP and HCP may also have skin blisters and sores on sun-exposed skin.

The buildup of porphyrin precursors in acute porphyria can lead to long-term complications, such as:

  • High blood pressure
  • Kidney damage
  • Liver damage, leading to cirrhosis of the liver
  • Liver cancer

Symptoms of cutaneous porphyria

With most variants of cutaneous porphyria, you may get blisters and your skin may scrape and bruise more easily when your skin is exposed to sunlight. These changes will most likely be on skin that gets the most sun, such as your face, neck, and the backs of your hands and forearms. It may take awhile after sun exposure for you to notice symptoms, so you may not immediately realize that sun exposure is causing them.

People with EPP and XLP will probably recognize that the sun is causing their symptoms because they will get symptoms within minutes to hours after sun exposure. These symptoms include burning, stinging, or tingling pain that may last hours, swelling, and redness of the sun-exposed skin but not blistering.

Some people with cutaneous porphyria also develop long-term liver conditions.

Doctors sometimes find it tricky to diagnose porphyria because these are rare conditions and the symptoms are similar to those of other conditions. Your doctor will likely start by asking about your symptoms and medical history and will examine you.

Porphyria testing

If your doctor thinks you may have it, they will likely order some lab tests to see how much porphyrin and porphyrin precursors you have in your blood, urine (pee), and stool (poop).

If your lab tests show you have too much porphyrin or porphyrin precursors in your system, they may order genetic tests to see if you have any gene mutations that cause porphyria, and if so, which one. If you do have a mutation, your doctor may recommend that other people in your family get tested, too.

Questions for your doctor

  • What caused my porphyria?
  • Which type do I have?
  • What tests do I need?
  • How can I determine and avoid my triggers?
  • Which treatments do you recommend?
  • How can I protect my skin from the sun?

Treating acute porphyria

When you have an outbreak of acute porphyria symptoms, you may need to stay in the hospital for a few days. Your doctor will usually treat your symptoms with:

  • IV fluids to help balance the minerals and salts in your blood
  • IV heme or a shot of hemin (Panhematin) to help your red blood cells get oxygen to your tissues
  • A sugar called dextrose either by IV or orally to help your liver process the extra porphyrin that has built up
  • Pain medicine, which may be a narcotic to help control severe pain
  • Ondansetron and promethazine for nausea and vomiting
  • Givosiran (Givlaari), which also helps your body process the porphyrin in your tissues

You may also get tolvaptan, which helps bring the salt in your blood into balance. If you're having seizures, you may get levetiracetam, which is one of the few anti-seizure medicines that don't trigger a porphyria attack.

Organ transplant for acute porphyria

If you have severe attacks, your doctor may prescribe givosiran to take once a month. This can help reduce the frequency and severity of your attacks. If you have AIP with repeated attacks and can't take givosiran, your doctor may recommend you for a liver transplant, which can cure the condition. If you have serious kidney damage, your doctor may also recommend you for a kidney transplant, as well.

Treating cutaneous porphyria

If you have cutaneous porphyria, your doctor will recommend you take steps to protect your skin from sunlight. Otherwise, your treatment will depend on the specific variant of porphyria you have and how severe your symptoms are. For instance, if you have EEP or XLP, your doctor may prescribe afamelanotide, which can help lower your sun sensitivity and allow you to stay out in the sun longer without having pain.

If you have PCT, your treatment may include:

  • Phlebotomy, which is when you have a pint of blood removed every 2 weeks until the amount of iron in your body goes down, or a prescription for deferoxamine, which can also reduce your iron levels
  • Low doses of the antimalarial drugs chloroquine or hydroxychloroquine twice a week to remove extra porphyrins in your liver
  • Treatment of chronic hepatitis C or HIV infection, if you have these

Your doctor may also suggest that you avoid your triggers, such as alcohol, marijuana, and tobacco smoke.

Bone marrow transplant for cutaneous porphyria

If you have CEP and severe symptoms, your doctor may recommend you for a hematopoietic stem cell (bone marrow) transplant, which may cure your condition.

There are many things you can do to prevent outbreaks and manage your symptoms. You will likely need care from a team of health care professionals. You might see:

  • Hematologists, doctors who treat blood diseases
  • Dermatologists, specialists in skin diseases
  • Hepatologists, doctors who treat liver diseases
  • Genetic counselors, who advise people about their risk of inherited diseases

It may take time to find the right doctors because porphyria is so rare. The American Porphyria Foundation (APF) can help you find a specialist in your area.

Good nutrition is another important part of taking care of yourself when you have porphyria. Your doctor or dietitian can help you get the right balance of carbohydrates and nutrients in your meals.

Most cases of prophyria are caused by genetic mutations, so you can't prevent it. But if you know you have it, you can help prevent attacks by figuring out and avoiding your triggers.

Most cases (about 75%-80%) of PCT are caused by exposure to things in your environment or an infection. To help avoid developing this form of PCT, avoid:

  • Alcohol
  • Smoking
  • Medicines that have estrogen or iron
  • Get treatment for chronic hepatitis C and HIV, if you have these conditions
  • Get treatment for hemochromatosis, if you have this condition

Each variant of porphyria has it's own complications.

Complications of acute porphyria

Acute porphyria can be life-threatening. In general, complications may include:

Complications of cutaneous porphyria

Cutaneous porphyria can lead to permanent skin damage. In general, complications may include:

  • Infection of blisters and sores
  • Discoloration of your skin
  • Fragile skin
  • Scars
  • Anemia
  • Liver disease
  • Kidney disease

How porphyria affects you depends on the variant you have. Acute porphyria symptoms start quickly and last a few days or weeks. Severe attacks of acute porphyria can sometimes cause nerve damage and muscle weakness that can take months to get better.

Regardless of the variant you have, porphyria is a chronic disease, which means symptoms come and go throughout your life. Avoiding your triggers can help prevent attacks.

Remember that everyone with porphyria is different. Some people have milder symptoms than others.

Treatments can help you feel better and prevent complications.

Keep in mind that researchers are always testing new treatments in clinical trials. Ask your doctor if you should consider joining one.

Getting porphyria support

When you're managing porphyria, just as with any other serious medical problem, it's important to reach out to family and friends. They can give you the emotional backing you need and help with everyday tasks while you get treatment.

Your medical team can also offer information and support. They may know about support groups that let you meet others with your condition.

Also, check the website of the APF. The group hosts patient education sessions where you can learn more about managing your symptoms. It also offers support for caregivers.

Porphyria is a group of mostly inherited conditions. It is caused by defects in the enzymes your body uses to make heme, the protein in your red blood cells that carries oxygen from your lungs to your other tissues. When your heme production slows down or stops, you get a buildup of chemicals called porphyrin or porphyrin precursors that cause nerve or skin symptoms. There are eight or nine (depending on the way the condition is classified) variants of the condition. Your symptoms and treatment will depend on which variant you have. Getting treatment is important because some variants can cause life-threatening complications.

What is another name for porphyria?

Porphyria is sometimes called the vampire disease because it can cause skin blisters on sun exposure, so people with it tend to avoid sunlight. Otherwise, different variants of porphyria may have alternate names. For instance:

  • AIP may also be called Swedish porphyria because there are more people in Sweden with it than anywhere else in the world.
  • CEP may also be called Gunther disease.

What is the triad of symptoms for porphyria?

The so-called "classic triad" of symptoms that suggest acute hepatic porphyria include abdominal pain, abnormalities in the central nervous system, and peripheral neuropathy.

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